M106T (p.Met106Thr) variant of SLC19A3 (Thiamine transporter 2)
M106T (p.Met106Thr) in SLC19A3 (Thiamine transporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
M106T (p.Met106Thr) variant details
- p.Met106Thr
- gnomAD 2-227686157-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.12
- ESM-1b 0.17
- AlphaMissense 0.42
- CADD 3.68
- Most common in the South Asian population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available